L-2-Hydroxyglutaric Aciduria: A Case Report with Clinical, Radiological, and Genetic Insights

L-2-hydroxyglutaric (L-2-OHG) aciduria is a rare, autosomal recessive inherited neurodegenerative disease. It can present with varying degrees of mental dysfunction, macrocephaly, febrile and afebrile seizures, pyramidal and extrapyramidal symptoms, and cerebellar ataxia. Typical magnetic resonance imaging (MRI) findings include bilateral symmetric subcortical white matter, basal ganglia, and dentate nucleus involvement. The brainstem, corpus callosum, and periventricular white matter are usually spared. Besides clinical and neuroimaging findings, the diagnosis can be made by detecting an elevated level of L-2-OHG acid in the blood, cerebrospinal fluid (CSF), and urine. Here, we present a 26-year-old patient diagnosed with L-2-OHG aciduria with an onset of gait disorder in his late teens. For contributing to the literature, clinical and typical imaging findings and differential diagnosis of this rare syndrome are discussed.